• PMID: 14978955
• Gene Name: DAZ1
• Condition: Infertility
• Association: It was observed that both the patients had deletions in the DAZ gene.
• Mutation: Deletion of DAZ gene
• Population size: 2
• Population details: 2 infertile
• Age: 42, 29
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: hypergonadotrophichypogonadism

[Two cases of 46,XX male with chief complaint of infertility]

Yumura Y, Kanno H, Ogawa T, Saito K, Sato K, Kubota Y, Iwasaki A, Sawada T.

We report two cases of XX male with chief complaints of infertility. Physical examination of both patients aged 42 and 29 demonstrated normal male habitus except for small testes. Semen analyses demonstrated no spermatozoa. Endocrinological examinations showed hypergonadotrophic hypogonadism. Vesiculograms demonstrated normal seminal tracts. Histological examination of their testes did not reveal germ cells; one case lacked seminiferous tubules and there was hyalinization in the seminiferous tubule in another case. Chromosomal analyses of peripheral blood demonstrated 46,XX. The sex-determining region Y gene was positive and DAZ (deleted in azoospermia) gene was negative in both cases. FAU - Yumura, Yasushi AU - Yumura Y AD - Department of Urology, Yokohama City University School of Medicine. FAU - Kanno, Hitomi AU - Kanno H FAU - Ogawa, Takehiko AU - Ogawa T FAU - Saito, Kazuo AU - Saito K FAU - Sato, Kazuhiko AU - Sato K FAU - Kubota, Yoshinobu AU - Kubota Y FAU - Iwasaki, Akira AU - Iwasaki A